R693G (p.Arg693Gly) variant of SMC1A (Q14683)
R693G (p.Arg693Gly) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R693G (p.Arg693Gly) variant details
- p.Arg693Gly
- UniProt VAR 062795
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. (PMID 19701948)
- Cited in: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. (PMID 16604071)